A First-person Perspective On What It’s Like To Have Children With Syngap1

Obstacles faced, the effects of the condition and how it has changed our lives 

By Danielle Williams 

Have you ever had a sick child? A moment, an hour, a day when you felt completely helpless? We’ve had six years of feeling helpless, watching our daughters have hundreds of seizures every day and struggling to do the most basic tasks. The chronic worry changes you, we now see the world through pain-tinted glasses.

While the pain and guilt is all encompassing, having special needs children has also given me new perspective. I have redefined success, happiness and accomplishment, reminding myself every day that success is not always packaged as you expected.

Our perception of normal has changed as well. I’ve realised that normal is underrated. I actually never wanted normal kids – I wanted extraordinary kids. I certainly got that, although I didn’t necessarily want my kids to be extraordinary to medical science.

We live in a parallel world to family and friends with kids the same age as ours. While they worry about the letter sent home from school about bullying, I worry about the family of the student who passed away in my principal’s letters. I worry about co-ordinating a 1:1 adult to child ratio when I leave the house than worrying about what my child might do to embarrass me. I worry about what I have or have not done to cause my child to cry uncontrollably for hours and less about whether I topped up my Nurofen supply. I worry about balancing my energy between finding a cure and treating the symptoms and less about how much energy I’ve dedicated to each child.

Our suspicions were first aroused when Jaeli was 15 months old. My husband noticed very subtle eyelid flutters and eye rolls. The first Paediatrician we saw dismissed us as neurotic first time parents and told us to go home. We were already pregnant again and dissatisfied with that advice. The next thing we did was the first step of our epic diagnostic journey.

We took our toddler to the emergency department of the Royal Children’s Hospital. Within an hour, our suspicions were confirmed. Our baby had epileptic activity manifesting as eyelid myoclonus seizures. With this first clue, we thought epilepsy explained all of the symptoms, a belief we held for the next 3 years.

Intractable epilepsy is a medical term we became very familiar with. We watched our toddler’s seizures intensify, her sleep always disturbed, violent mood swings and self-harming behaviour. At the time, we didn’t realise the significance of the first anti-convulsant failing to control her seizures. The fact that one failed anti-convulsant has an effect on the probability of any others working.  We tried 17 further anti-convulsants in the belief they would help.

We forced medicine into Jaeli in the belief that it would help her, only to find that it did more harm than good. We became experts at dosing, crushing, hiding and monitoring the efficacy and side effects of various medicines.

By the time we had tried 10 anti-convulsants, Jaeli’s seizures were the worst they had ever been. She was having hundreds of seizures every day. She couldn’t eat or walk without suddenly dropping to the ground or flinging her food across the room. We were losing faith in Western medicine. We tried alternative therapies and the Ketogenic diet; an extremely controlled diet requiring hospital admission.

We felt like we were racing the clock. The longer the seizures persisted, the more damage was being done. Our vision of our normal little girl was slipping away with every failed anticonvulsant.

We saw multiple specialists and even reached out to modern medical detectives looking for a cause that would lead us to a magic cure. The more specialists we saw, the longer our list of problems became. The list ranged from chronic obstructive from sleep apnoea to autism. The more we found out, the more confused we got. We questioned every new clue. During the time, Dr. Google was not very useful.

Dali was born three days before Jaeli’s 2nd birthday. She hit all of her milestones in her first year of life but by the time she was 13-months old, we knew exactly what the subtle eye rolls meant and how they evolve. ‘Heartbreaking’ doesn’t do the emotion justice but heartbreaking is the only term that feels remotely apt. We had learnt a lot about what did and didn’t work with Jaeli but unfortunately the list was heavily skewed to what didn’t work. We still had no idea what we were dealing with or how to successfully treat it and now we had two children with the same problems.

We lived under a dark cloud for the first few years. Travelling separately through the stages of grief. Chronic sleep deprivation was the norm, we operated in a zombie-like state and for me, temporary denial was my saviour. If my work colleagues knew what I had to go through every day, every night, every weekend, they too would see me as the helpless mother I was in every moment when not at work. Leading a double life was my emotional survival mechanism. It didn’t mean I was less of a wreck than other mums with special needs kids, I just limited the time I allowed myself to be a wreck.

For those first few years, it was difficult to even fathom the cloud had edges but once the darkness subsided, a silver lining emerged.  Recently I was hanging up the washing watching a 5-year-old Dali explore her surroundings.  She pulled the full washing basket down from the bench and buried herself in the sheets.  It dawned on me that we get to enjoy that age of wonderment when your toddler discovers new things for the first time, entertaining as they explore everything around them. That age of wonderment with our girls may span a decade. We’re entering our 8th year listening to the Wiggles!

In February 2016, following Whole Genome Sequencing on our family, we finally received a diagnosis, a genetic reason for all of the symptoms: SYNGAP1. A seven letter word that spelt the end of our search for the ‘Why’. We are more informed now than we ever have been yet. We now have something to anchor to. We feel more empowered than ever before.  More connected to our community and grateful for the new connection with our global Syngap1 family.

One of the most unexpected benefits of having special needs children is the people you meet as a result. We have been introduced to a world of amazing carers who have helped broadened our understanding of life and love.  Since going public with the details of our girl’s condition, we have been touched by the kindness and generosity of our community in helping us raise awareness and funds for research. Our community has surprised us with the healing power of ‘social medicine’. People genuinely want to help and it’s heart-warming to be the benefactors of that goodwill.

While we are restricted in what we can do as a family, we have fun together and instil a sense of belonging and unconditional acceptance in the girls.  Much like other parents, we want our children to be happy, to be heard, to feel fulfilled and to be connected in their own world.

Since 2011, when we first realised we were different, our journey in numbers;

2 daughters, 12 symptoms, 4 seizure types, at worst – 52 seizures every hour, 18 trialled anti-convulsants, 2 diets, 5 homeopathic supplements, 20 specialists across 11 different specialities, 7 therapists, 5 years on the diagnostic odyssey, 2,000 disturbed and worried nights, > 250 appointments equalling 14 working weeks of appointments, 45 blood tests, 10 urine samples, 2 lumbar punctures, 600 blood ketone measures, 3 anaesthetics, 3 MRIs, 5 EEGs, 15 nights in hospitals, 2 sleep studies involving EEGs and 24/7 video monitoring, 2 visits to A&E, 1 ambulance ride, 22 differential diagnoses, 27 therapy and treatment ideas explored, 1 emotional roller coaster, 1 diagnosis & now real hope for a cure.

Find out more about us @ our Facebook page https://www.facebook.com/Syngapresearch/

Contribute to our research effort here: http://www.supportepilepsy.com.au/event/SynGAPresearch